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Items: 6

1.

Pulmonary interstitial glycogenosis

Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term). [from ORDO]

MedGen UID:
798843
Concept ID:
CN201153
Finding
2.

Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. [from MeSH]

MedGen UID:
403453
Concept ID:
C2717865
Disease or Syndrome
3.

Myocardial infarction

Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. Those symptoms include. -Chest discomfort - pressure, squeezing, or pain . -Shortness of breath . -Discomfort in the upper body - arms, shoulder, neck, back . -Nausea, vomiting, dizziness, lightheadedness, sweating . These symptoms can sometimes be different in women. What exactly is a heart attack? Most heart attacks happen when a clot in the coronary artery blocks the supply of blood and oxygen to the heart. Often this leads to an irregular heartbeat - called an arrhythmia - that causes a severe decrease in the pumping function of the heart. A blockage that is not treated within a few hours causes the affected heart muscle to die. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
4.

Proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [from ORDO]

MedGen UID:
832697
Concept ID:
CN205570
Disease or Syndrome
5.

Myocardial infarction

Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. [from HPO]

MedGen UID:
504896
Concept ID:
CN001509
Finding
6.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMA associated with disease-causing mutations of SMN1 spans a continuum without clear delineation of subtypes. Nonetheless, classification by age of onset and maximum function achieved is useful for prognosis and management; subtypes include: SMA 0 (proposed), with prenatal onset and severe joint contractures, facial diplegia, and respiratory failure; SMA I, with onset before age six months; SMA II, with onset between age six and 12 months; SMA III, with onset in childhood after age 12 months and ability to walk at least 25 meters achieved; and SMA IV, with adult onset. [from GeneReviews]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
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